Variant report

Variant	nsv521116
Chromosome Location	chr9:104642966-104904454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:705)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:104689227-104689231	K562	blood:	n/a	n/a
2	ARID3A	chr9:104868818-104868993	K562	blood:	n/a	n/a
3	ARID3A	chr9:104656203-104656979	K562	blood:	n/a	n/a
4	ATF1	chr9:104692769-104692902	K562	blood:	n/a	n/a
5	ATF1	chr9:104667150-104667409	K562	blood:	n/a	n/a
6	BACH1	chr9:104666707-104666740	K562	blood:	n/a	n/a
7	BHLHE40	chr9:104656000-104656660	K562	blood:	n/a	n/a
8	BHLHE40	chr9:104693595-104693643	GM12878	blood:	n/a	n/a
9	BHLHE40	chr9:104808797-104808879	HepG2	liver:	n/a	n/a
10	CBX3	chr9:104656265-104656906	K562	blood:	n/a	n/a
11	CCNT2	chr9:104656253-104656608	K562	blood:	n/a	n/a
12	CEBPB	chr9:104684384-104684709	K562	blood:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
13	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
14	CEBPB	chr9:104726861-104727114	A549	lung:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
15	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
16	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr9:104757408-104758008	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
20	CEBPB	chr9:104707632-104707710	A549	lung:	n/a	n/a
21	CEBPB	chr9:104652997-104653341	K562	blood:	n/a	chr9:104653155-104653166 chr9:104653155-104653168
22	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
23	CEBPB	chr9:104695306-104695416	HepG2	liver:	n/a	n/a
24	CEBPB	chr9:104688976-104689041	K562	blood:	n/a	n/a
25	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
26	CEBPB	chr9:104684397-104684686	IMR90	lung:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
27	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
29	CEBPB	chr9:104657056-104657181	K562	blood:	n/a	n/a
30	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
31	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
32	CEBPB	chr9:104643934-104644220	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr9:104684467-104684629	H1-hESC	embryonic stem cell:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
34	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
35	CEBPB	chr9:104726921-104727121	HepG2	liver:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
36	CEBPB	chr9:104643971-104644157	K562	blood:	n/a	n/a
37	CEBPB	chr9:104725632-104725661	HepG2	liver:	n/a	chr9:104725637-104725648
38	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:104653098-104653298	HepG2	liver:	n/a	chr9:104653155-104653166 chr9:104653155-104653168
40	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
41	CEBPB	chr9:104714171-104714210	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:104714121-104714184	K562	blood:	n/a	n/a
43	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
44	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
45	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPD	chr9:104656187-104656736	K562	blood:	n/a	n/a
47	CEBPD	chr9:104656243-104656652	K562	blood:	n/a	n/a
48	CHD2	chr9:104886929-104886951	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr9:104739980-104740130	HPAF	blood vessel:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
50	CTCF	chr9:104735200-104735350	HRPEpiC	eye:	n/a	chr9:104735238-104735256 chr9:104735240-104735253

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
2	chr11:118868629..118869144-chr9:104880609..104881109,2	MCF-7	breast:
3	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
4	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
5	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
6	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
7	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
8	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
9	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
10	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
11	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
12	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
13	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
14	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
15	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
16	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
17	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
18	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
19	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
20	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
21	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
22	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
23	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
24	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
25	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
26	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
27	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
28	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
29	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
30	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
31	chr9:104554048..104554859-chr9:104734774..104735456,4	MCF-7	breast:
32	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-7	chr9:104811295-104811420	NONHSAT133754
2	lnc-C9orf107-7	chr9:104810504-104810756	NONHSAT133754
3	lnc-RNF20-2	chr9:104652669-104652689	XLOC_007493
4	lnc-RNF20-2	chr9:104654473-104654712	XLOC_007493
5	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755

No data

Variant related genes	Relation type
ARL2BPP7	TF binding region
ENSG00000186166	chromatin interactions
ENSG00000255121	chromatin interactions

Extended variants
information (count: 3826 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3826 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9299352	chr9:104642966-104642967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556574120	chr9:104642967-104642968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570280910	chr9:104642978-104642979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147011856	chr9:104642989-104642990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558556167	chr9:104643060-104643061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572096505	chr9:104643103-104643104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541106786	chr9:104643106-104643107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181506444	chr9:104643131-104643132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574539000	chr9:104643145-104643146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535631575	chr9:104643149-104643150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376733968	chr9:104643194-104643195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563340879	chr9:104643219-104643220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138982407	chr9:104643237-104643238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545713304	chr9:104643260-104643261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201512569	chr9:104643266-104643267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564915824	chr9:104643295-104643296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527712382	chr9:104643296-104643297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547476469	chr9:104643301-104643302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567793264	chr9:104643327-104643328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111498069	chr9:104643360-104643361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530138113	chr9:104643362-104643363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550306440	chr9:104643387-104643388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149362642	chr9:104643468-104643469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539312941	chr9:104643516-104643517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554038459	chr9:104643529-104643530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185891072	chr9:104643538-104643539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565667125	chr9:104643560-104643561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537121216	chr9:104643611-104643612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534646448	chr9:104643612-104643613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554702613	chr9:104643619-104643620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189129565	chr9:104643637-104643638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144726972	chr9:104643640-104643641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148121683	chr9:104643715-104643716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576991347	chr9:104643757-104643758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181166721	chr9:104643787-104643788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12349306	chr9:104643788-104643789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376726382	chr9:104643789-104643790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185607775	chr9:104643905-104643906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75609627	chr9:104643910-104643911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74326250	chr9:104643912-104643913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534305868	chr9:104643959-104643960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553606388	chr9:104643971-104643972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530173529	chr9:104644013-104644014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78319497	chr9:104644037-104644038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189634008	chr9:104644074-104644075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563886067	chr9:104644085-104644086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532792358	chr9:104644095-104644096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182943733	chr9:104644120-104644121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73659113	chr9:104644126-104644127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112469962	chr9:104644187-104644188	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104638800-104643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:104638800-104643200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:104643200-104644000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:104643200-104644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:104643800-104644200	Enhancers	K562	blood
6	chr9:104647200-104648000	Enhancers	Fetal Intestine Small	intestine
7	chr9:104648000-104651400	Weak transcription	Fetal Intestine Small	intestine
8	chr9:104651400-104652400	Enhancers	Fetal Intestine Small	intestine
9	chr9:104652400-104654800	Weak transcription	Fetal Intestine Small	intestine
10	chr9:104654800-104660800	Enhancers	Fetal Intestine Small	intestine
11	chr9:104655000-104660800	Enhancers	Fetal Intestine Large	intestine
12	chr9:104655400-104657000	Enhancers	Liver	Liver
13	chr9:104655800-104656000	Enhancers	K562	blood
14	chr9:104655800-104656800	Enhancers	Duodenum Mucosa	Duodenum
15	chr9:104656000-104656800	Flanking Active TSS	K562	blood
16	chr9:104656800-104657400	Enhancers	K562	blood
17	chr9:104657400-104667200	Weak transcription	K562	blood
18	chr9:104664000-104665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:104664200-104665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:104667200-104667600	Enhancers	K562	blood
21	chr9:104667800-104669600	Enhancers	Adipose Nuclei	Adipose
22	chr9:104668800-104669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:104669000-104670200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:104669200-104669400	Active TSS	Pancreas	Pancrea
25	chr9:104669400-104669600	Flanking Active TSS	Pancreas	Pancrea
26	chr9:104669600-104674800	Weak transcription	Adipose Nuclei	Adipose
27	chr9:104673000-104673800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:104673800-104674200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:104674200-104675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:104674800-104675000	Enhancers	Adipose Nuclei	Adipose
31	chr9:104675000-104677200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:104675000-104677200	Weak transcription	Adipose Nuclei	Adipose
33	chr9:104677200-104677800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:104677200-104677800	Enhancers	Adipose Nuclei	Adipose
35	chr9:104677200-104677800	Active TSS	Gastric	stomach
36	chr9:104677400-104677800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:104677400-104677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:104678600-104680200	Weak transcription	Liver	Liver
39	chr9:104680200-104681000	Strong transcription	Liver	Liver
40	chr9:104681000-104687800	Weak transcription	Liver	Liver
41	chr9:104681200-104681800	Enhancers	Fetal Heart	heart
42	chr9:104687600-104688400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:104728400-104729400	Enhancers	Fetal Heart	heart
44	chr9:104729200-104729800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:104729200-104729800	Enhancers	Fetal Muscle Leg	muscle
46	chr9:104738200-104739200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:104739600-104739800	Enhancers	Fetal Heart	heart
48	chr9:104739800-104740400	Weak transcription	Fetal Heart	heart
49	chr9:104740200-104740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:104740400-104740600	Enhancers	Fetal Heart	heart

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